Linked Data
ClinVar Variation Id:
222577
ClinVar RCV Id:
RCV000208250
RCV000465636
RCV000852571
RCV003997679
RCV004020554
RCV002485358
RCV003437009
dbSNP Id:
rs374263890
ExAC:
6:7579557 G / A
gnomAD v2:
6-7579557-G-A
gnomAD v3:
6-7579324-G-A
gnomAD v4:
6-7579324-G-A
COSMIC:
COSM1696904
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7579324G>A , CM000668.2:g.7579324G>A | GRCh38 |
| NC_000006.11:g.7579557G>A , CM000668.1:g.7579557G>A | GRCh37 |
| NC_000006.10:g.7524556G>A | NCBI36 |
| NG_008803.1:g.42688G>A , LRG_423:g.42688G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3134G>A | ENSP00000518230.1:p.Arg1045Gln | |
| ENST00000379802.8:c.3134G>A MANE Select | ENSP00000369129.3:p.Arg1045Gln | |
| ENST00000379802.7:c.3134G>A | ENSP00000369129.3:p.Arg1045Gln | |
| ENST00000418664.2:c.3134G>A | ENSP00000396591.2:p.Arg1045Gln | |
| NM_001008844.1:c.3134G>A | NP_001008844.1:p.Arg1045Gln | |
| NM_004415.2:c.3134G>A , LRG_423t1:c.3134G>A | NP_004406.2:p.Arg1045Gln | |
| XM_011514323.1:c.3134G>A | XP_011512625.1:p.Arg1045Gln | |
| NM_001008844.2:c.3134G>A | NP_001008844.1:p.Arg1045Gln | |
| NM_001319034.1:c.3134G>A | NP_001305963.1:p.Arg1045Gln | |
| NM_004415.3:c.3134G>A | NP_004406.2:p.Arg1045Gln | |
| NM_004415.4:c.3134G>A MANE Select | NP_004406.2:p.Arg1045Gln | |
| NM_001008844.3:c.3134G>A | NP_001008844.1:p.Arg1045Gln | |
| NM_001319034.2:c.3134G>A | NP_001305963.1:p.Arg1045Gln |